syndroom van Duane-anomalie, myopathie en scoliose (aandoening) DEPRECATED | | syndroom van Duane-anomalie, myopathie en scoliose | | syndroom van Verloes-Deprez
| | Duane anomaly, myopathy, scoliosis syndrome | | Verloes Deprez syndrome
| | A rare genetic disease characterized by bilateral Duane retraction syndrome type 3 (consisting of severe limitation of abduction, restriction of adduction, retraction of the globe, and narrowing of the palpebral fissure) and congenital myopathy manifesting as mild non-progressive hypotonia without muscular weakness, as well as delayed motor milestones, severe early-onset scoliosis, and short stature. Intelligence is normal. |
| Id | 722432000 | Status | Primitive |
DHD Diagnosis thesaurus reference set |
SNOMED CT to Orphanet simple map | 50817 |
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